C1859570[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551815	NM_152618.3(BBS12):c.1A>C (p.Met1Leu)	BBS12 (M1L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 556158	NM_152618.3(BBS12):c.2T>C (p.Met1Thr)	BBS12 (M1T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 554595	NM_152618.3(BBS12):c.29_31del (p.Lys10del)	BBS12 (K10del)	Deletion (inframe_deletion)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 444639	NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del)	BBS12 (R12del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 558579	NM_152618.3(BBS12):c.49dup (p.Gln17fs)	BBS12 (Q17fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 554330	NM_152618.3(BBS12):c.265_266del (p.Leu89fs)	BBS12 (L89fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +2 more	GPathogenic/Likely pathogenic
Select item 555873	NM_152618.3(BBS12):c.270del (p.Val92fs)	BBS12 (V92fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 558479	NM_152618.3(BBS12):c.298GAA[1] (p.Glu101del)	BBS12 (E101del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome 12 +1 more	GUncertain significance
Select item 554378	NM_152618.3(BBS12):c.343_345del (p.Val115del)	BBS12 (V115del)	Deletion (inframe_deletion)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 555305	NM_152618.3(BBS12):c.416_419del (p.Asp139fs)	BBS12 (D139fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 555890	NM_152618.3(BBS12):c.424dup (p.Asp142fs)	BBS12 (D142fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 555505	NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)	BBS12 (P159L)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 556835	NM_152618.3(BBS12):c.568dup (p.Ser190fs)	BBS12 (S190fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 554757	NM_152618.3(BBS12):c.629ACA[1] (p.Asn211del)	BBS12 (N211del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 558497	NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)	BBS12 (R214*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 558264	NM_152618.3(BBS12):c.652_653insCAA (p.Lys217_Asn218insThr)	BBS12	Insertion (inframe_insertion)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 557758	NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)	BBS12 (Q228fs)	Insertion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 550788	NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)	BBS12 (Q228*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 555983	NM_152618.3(BBS12):c.760G>T (p.Glu254Ter)	BBS12 (E254*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 550824	NM_152618.3(BBS12):c.787T>C (p.Tyr263His)	BBS12 (Y263H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GUncertain significance
Select item 551644	NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)	BBS12 (E288del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome 12 +2 more	GUncertain significance
Select item 558010	NM_152618.3(BBS12):c.1009_1010del (p.Val337fs)	BBS12 (V337fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 557477	NM_152618.3(BBS12):c.1024AAT[1] (p.Asn343del)	BBS12 (N343del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 555102	NM_152618.3(BBS12):c.1037T>C (p.Ile346Thr)	BBS12 (I346T)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 1147	NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	BBS12 (R355*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +5 more	GPathogenic
Select item 371339	NM_152618.3(BBS12):c.1082del (p.Gly361fs)	BBS12 (G361fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 347497	NM_152618.3(BBS12):c.1092del (p.Glu365fs)	BBS12 (E365fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 188395	NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)	BBS12 (T380I)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GUncertain significance
Select item 550298	NM_152618.3(BBS12):c.1140_1141del (p.Val381fs)	BBS12 (V381fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 550386	NM_152618.3(BBS12):c.1151del (p.Ser384fs)	BBS12 (S384fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 281597	NM_152618.3(BBS12):c.1198G>A (p.Val400Met)	BBS12 (V400M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 347502	NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr)	BBS12 (C426Y)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 553411	NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs)	BBS12 (K430fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 555788	NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)	BBS12 (Q443fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 554604	NM_152618.3(BBS12):c.1372dup (p.Thr458fs)	BBS12 (T458fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 531820	NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter)	BBS12 (Q459*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 549902	NM_152618.3(BBS12):c.1418_1420del (p.Phe473del)	BBS12 (F473del)	Deletion (inframe_deletion)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 216822	NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly)	BBS12 (R487G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 555933	NM_152618.3(BBS12):c.1507G>A (p.Val503Met)	BBS12 (V503M)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 553346	NM_152618.3(BBS12):c.1571A>G (p.Tyr524Cys)	BBS12 (Y524C)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GUncertain significance
Select item 220303	NM_152618.3(BBS12):c.1574G>A (p.Arg525His)	BBS12 (R525H)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +2 more	GConflicting classifications of pathogenicity
Select item 555332	NM_152618.3(BBS12):c.1616G>T (p.Gly539Val)	BBS12 (G539V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 550609	NM_152618.3(BBS12):c.1619G>T (p.Gly540Val)	BBS12 (G540V)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 12 +1 more	GConflicting classifications of pathogenicity
Select item 552099	NM_152618.3(BBS12):c.1681_1683del (p.Glu561del)	BBS12 (E561del)	Deletion (inframe_deletion)	Bardet-Biedl syndrome 12 +1 more	GUncertain significance
Select item 556380	NM_152618.3(BBS12):c.1749C>G (p.Tyr583Ter)	BBS12 (Y583*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 557007	NM_152618.3(BBS12):c.1795del (p.Leu599fs)	BBS12 (L599fs)	Deletion (frameshift variant)	Bardet-Biedl syndrome 12	GLikely pathogenic
Select item 552661	NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del)	BBS12 (S645del)	Microsatellite (inframe_deletion)	Bardet-Biedl syndrome 12 +2 more	GUncertain significance
Select item 553671	NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)	BBS12 (S650*)	Single nucleotide variant (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 552893	NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer)	BBS12	Deletion (nonsense)	Bardet-Biedl syndrome 12 +1 more	GPathogenic/Likely pathogenic
Select item 281596	NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys)	BBS12 (R674C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 347505	NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)	BBS12 (R675*)	Single nucleotide variant (nonsense)	BBS12-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 558442	NM_152618.3(BBS12):c.2074dup (p.Thr692fs)	BBS12 (T692fs)	Duplication (frameshift variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347510	NM_152618.3(BBS12):c.*484A>G	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 558547	NM_152618.3(BBS12):c.803_804insT	BBS12	Insertion (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance
Select item 347515	NM_152618.3(BBS12):c.*854C>A	BBS12	Single nucleotide variant (3 prime UTR variant)	Bardet-Biedl syndrome 12	GUncertain significance

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Items: 55